Gene therapies are a means to treat disease by modifying the genetic machinery of cells in the body. The goal is to target the underlying genetic cause of disease, which can be accomplished via repair of a genetic defect or replacement of missing or defective genes with healthy, fully functional ones. This in turn enables the normal expression and function of critical proteins.

There are a number of different types of gene therapy. Some of those under development right now include:

• Gene Editing is a precise method of targeting a gene mutation by inserting, removing, or replacing specific pieces of DNA within the faulty gene itself.
• Gene Knockdown, or the reduction of gene expression resulting in reduced protein production, can be achieved during the protein manufacturing process during either transcription or translation via a strategy known as RNA interference (RNAi).
• Gene Replacement is a technique in which the addition of a new, working copy of a gene into target cells serves as a healthy replacement for a missing or mutated gene. The new gene is manufactured in the laboratory and transported to the nucleus of targeted cells, where its code can be read and its instructions for protein production implemented. This type of therapy may be used  in loss-of-function disorders caused by a missing or defective gene and the subsequent deficiency or insufficiency of that gene’s normal product. The introduction of the healthy gene is intended to result in production of a sufficient amount of properly functioning protein.

Transportation of genetic material to target cells is an incredibly important part of the gene therapy approach. Small viruses often serve as vectors, or transport vehicles, capable of delivering genetic material “cargo” to its destination either into a cell’s existing DNA or into its nucleus. Many scientists currently are working with adeno-associated viral (AAV) vectors, which are able to penetrate the cell’s nucleus and aren’t known to cause diseases in people. However, their small size limits the amount of genetic material they can carry.

Risks are inherent with any treatment, and gene therapy is no exception. However, it likely won’t be possible to “turn off” gene therapy, which is why it’s critical to study methods of administration, the genetic material to be delivered or altered, a patient’s disease stage and other aspects of his or her genetic makeup.

CMT Research Foundation is leading the charge to ensure safe and effective therapies for all forms of CMT make it to the market to help those living with CMT today. We are working every day to support the families, the foundations, the academics, the scientists, the biotechs and the pharma companies who share our goal and who are working to make it happen.

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